2013•Molecular Genetics and MetabolismRequires access

Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency

Inês Vaz Matos, Esperanza Castejón, Silvia María Meavilla, María del Mar O’Callaghan, Judit García‐Villoria, Anna López Sala, Antònia Ribes, Rafael Artuch, Ángeles García‐Cazorla

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Key concepts: Hydroxocobalamin, Cobalamin, Methylmalonic acid, Homocystinuria, Methylmalonic aciduria, Medicine, Folinic acid, Newborn screening